Mutagenetix > Incidental Mutation

Incidental Mutation 'R8516:Adamtsl1'

656132

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl1

Ensembl Gene

ENSMUSG00000066113

Gene Name

ADAMTS-like 1

Synonyms

punctin-1, 5930437A14Rik, 6720426B09Rik

MMRRC Submission

067848-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

R8516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85432409-86346622 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86260780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1005 (Y1005C)

Ref Sequence

ENSEMBL: ENSMUSP00000102796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107178] [ENSMUST00000141889]

AlphaFold

Q8BLI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000107178
AA Change: Y1005C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
AA Change: Y1005C

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
TSP1	36	82	8.95e-7	SMART
TSP1	301	360	4.35e-2	SMART
TSP1	362	421	2.05e-2	SMART
TSP1	422	476	3.99e-4	SMART
TSP1	508	567	6.39e-3	SMART
TSP1	593	650	7.86e-3	SMART
TSP1	652	712	3.78e-5	SMART
TSP1	715	772	2.66e-2	SMART
TSP1	774	833	1.62e-4	SMART
IGc2	873	937	4.19e-6	SMART
low complexity region	1123	1142	N/A	INTRINSIC
IGc2	1175	1240	1.31e-7	SMART
IGc2	1282	1351	7.81e-15	SMART
IGc2	1400	1467	2.39e-10	SMART
TSP1	1481	1537	2.12e-1	SMART
TSP1	1540	1599	1.74e-4	SMART
TSP1	1600	1658	8.2e0	SMART
TSP1	1660	1717	1.96e-1	SMART
Pfam:PLAC	1721	1751	1.4e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000141889
AA Change: Y997C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: Y997C

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
TSP1	36	82	8.95e-7	SMART
TSP1	301	360	4.35e-2	SMART
TSP1	379	438	2.05e-2	SMART
TSP1	439	493	3.99e-4	SMART
TSP1	525	584	6.39e-3	SMART
TSP1	610	667	7.86e-3	SMART
TSP1	707	764	2.66e-2	SMART
TSP1	766	825	1.62e-4	SMART
IGc2	865	929	4.19e-6	SMART
low complexity region	1115	1134	N/A	INTRINSIC
IGc2	1167	1232	1.31e-7	SMART
IGc2	1274	1343	7.81e-15	SMART
IGc2	1392	1459	2.39e-10	SMART
TSP1	1473	1529	2.12e-1	SMART
TSP1	1532	1591	1.74e-4	SMART
TSP1	1592	1650	8.2e0	SMART
TSP1	1652	1709	1.96e-1	SMART
Pfam:PLAC	1712	1744	5.6e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	T	9: 4,309,373 (GRCm39)	S22T	probably benign	Het
Acte1	T	A	7: 143,451,011 (GRCm39)	I342N	probably damaging	Het
Actr8	G	T	14: 29,712,856 (GRCm39)	A500S	probably benign	Het
Ank3	T	A	10: 69,763,559 (GRCm39)	Y884*	probably null	Het
Arhgap28	T	C	17: 68,180,068 (GRCm39)	R306G	probably benign	Het
Atp8a2	A	C	14: 59,928,921 (GRCm39)	I1044M	probably benign	Het
Bahd1	A	G	2: 118,747,452 (GRCm39)	Y357C	probably benign	Het
Btd	A	T	14: 31,388,824 (GRCm39)	T182S	probably damaging	Het
Casc3	C	T	11: 98,713,607 (GRCm39)	R280C	probably damaging	Het
Cisd2	T	C	3: 135,116,774 (GRCm39)	T106A	probably damaging	Het
Cldn15	G	T	5: 137,003,550 (GRCm39)	C184F	probably damaging	Het
Clk4	G	A	11: 51,166,088 (GRCm39)	R198Q	probably damaging	Het
Coprs	G	T	8: 13,935,065 (GRCm39)	F163L	probably damaging	Het
Csmd3	G	A	15: 47,492,761 (GRCm39)	R2216*	probably null	Het
Defb7	A	T	8: 19,547,623 (GRCm39)	I43F	possibly damaging	Het
Dpp8	C	A	9: 64,985,291 (GRCm39)	T783K	probably damaging	Het
Eif2s1	G	A	12: 78,927,936 (GRCm39)	G204D	probably damaging	Het
Elavl4	T	C	4: 110,108,576 (GRCm39)	N56S	probably damaging	Het
Emilin1	G	A	5: 31,074,515 (GRCm39)	R252H	probably damaging	Het
Exd1	A	T	2: 119,350,554 (GRCm39)	L569Q	probably damaging	Het
Gpn2	C	T	4: 133,312,142 (GRCm39)	R125C	probably damaging	Het
Gria2	T	C	3: 80,614,294 (GRCm39)	E582G	probably benign	Het
Hadha	A	T	5: 30,331,582 (GRCm39)	V458E	probably damaging	Het
Hap1	T	C	11: 100,246,893 (GRCm39)	K4R	possibly damaging	Het
Hectd4	A	T	5: 121,487,073 (GRCm39)	H3356L	possibly damaging	Het
Herc2	G	A	7: 55,856,318 (GRCm39)	V3919I	probably benign	Het
Lgr6	G	T	1: 135,003,021 (GRCm39)	N76K	probably damaging	Het
Or52w1	A	G	7: 105,017,976 (GRCm39)	I148V	probably benign	Het
P4ha3	A	G	7: 99,963,869 (GRCm39)	M462V	probably damaging	Het
Pde3b	A	T	7: 114,126,084 (GRCm39)	M773L	probably benign	Het
Peak1	T	C	9: 56,167,284 (GRCm39)	S215G	probably damaging	Het
Pgm5	T	A	19: 24,793,074 (GRCm39)	M331L	probably benign	Het
Piwil2	A	G	14: 70,658,188 (GRCm39)	V213A	probably benign	Het
Plch2	T	C	4: 155,070,764 (GRCm39)	H1205R	probably benign	Het
Pop4	A	T	7: 37,966,826 (GRCm39)	M85K	probably benign	Het
Ppp3ca	T	A	3: 136,583,529 (GRCm39)	I212N	probably damaging	Het
Prom1	T	C	5: 44,164,441 (GRCm39)	K714R	probably benign	Het
Psip1	C	T	4: 83,384,952 (GRCm39)	G207S	probably benign	Het
Rgs22	A	G	15: 36,010,481 (GRCm39)	*1259Q	probably null	Het
Scn1a	C	T	2: 66,156,478 (GRCm39)	G477D	possibly damaging	Het
Sf3b1	T	C	1: 55,051,262 (GRCm39)	E222G	probably null	Het
Snrpa1	G	A	7: 65,720,381 (GRCm39)	G195R	probably benign	Het
Spem2	T	C	11: 69,707,721 (GRCm39)	R415G	possibly damaging	Het
Tmem167	T	A	13: 90,246,515 (GRCm39)	V13E	probably damaging	Het
Trim2	C	T	3: 84,115,627 (GRCm39)	A102T	probably damaging	Het
Trim30b	A	G	7: 104,006,611 (GRCm39)	S82P	probably benign	Het
Uba6	A	C	5: 86,275,607 (GRCm39)	S760R	possibly damaging	Het
Upf2	T	C	2: 6,023,782 (GRCm39)	F711L	unknown	Het
Utrn	T	A	10: 12,362,254 (GRCm39)	D2693V	probably damaging	Het
Vmn1r30	T	G	6: 58,412,109 (GRCm39)	Y241S	probably damaging	Het
Vmn2r110	A	G	17: 20,794,875 (GRCm39)	L598P	probably damaging	Het
Wfdc18	T	A	11: 83,599,984 (GRCm39)	F14Y	probably benign	Het
Wnt10b	A	T	15: 98,670,761 (GRCm39)	C256S	probably damaging	Het
Xrn1	T	A	9: 95,930,444 (GRCm39)	Y1554*	probably null	Het
Zc3h12a	T	A	4: 125,013,632 (GRCm39)	S411C	probably damaging	Het
Zfp112	G	A	7: 23,823,389 (GRCm39)	G63E	probably benign	Het
Zfp786	A	T	6: 47,797,477 (GRCm39)	L487Q	probably damaging	Het
Zfp953	T	A	13: 67,493,419 (GRCm39)	Y75F	possibly damaging	Het

Other mutations in Adamtsl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Adamtsl1	APN	4	86,303,877 (GRCm39)	missense	probably benign	0.01
IGL00741:Adamtsl1	APN	4	86,195,185 (GRCm39)	missense	probably damaging	1.00
IGL00770:Adamtsl1	APN	4	86,306,776 (GRCm39)	missense	possibly damaging	0.65
IGL00774:Adamtsl1	APN	4	86,306,776 (GRCm39)	missense	possibly damaging	0.65
IGL00826:Adamtsl1	APN	4	86,075,041 (GRCm39)	missense	probably damaging	1.00
IGL00938:Adamtsl1	APN	4	86,260,515 (GRCm39)	missense	possibly damaging	0.93
IGL01012:Adamtsl1	APN	4	86,260,426 (GRCm39)	missense	possibly damaging	0.93
IGL01728:Adamtsl1	APN	4	86,029,074 (GRCm39)	missense	probably damaging	1.00
IGL01801:Adamtsl1	APN	4	86,117,559 (GRCm39)	missense	probably benign	0.23
IGL01922:Adamtsl1	APN	4	86,168,139 (GRCm39)	missense	probably damaging	1.00
IGL02006:Adamtsl1	APN	4	86,117,582 (GRCm39)	missense	probably damaging	1.00
IGL02192:Adamtsl1	APN	4	86,146,253 (GRCm39)	missense	probably damaging	1.00
IGL02351:Adamtsl1	APN	4	86,075,110 (GRCm39)	critical splice donor site	probably null
IGL02358:Adamtsl1	APN	4	86,075,110 (GRCm39)	critical splice donor site	probably null
IGL02373:Adamtsl1	APN	4	86,168,042 (GRCm39)	missense	probably damaging	1.00
IGL02660:Adamtsl1	APN	4	86,150,847 (GRCm39)	missense	probably damaging	1.00
IGL02964:Adamtsl1	APN	4	86,342,594 (GRCm39)	missense	probably damaging	1.00
IGL03233:Adamtsl1	APN	4	86,260,357 (GRCm39)	missense	probably damaging	1.00
IGL03297:Adamtsl1	APN	4	86,341,663 (GRCm39)	missense	probably damaging	0.98
IGL03326:Adamtsl1	APN	4	86,170,985 (GRCm39)	splice site	probably benign
PIT4378001:Adamtsl1	UTSW	4	86,117,601 (GRCm39)	missense	possibly damaging	0.93
PIT4418001:Adamtsl1	UTSW	4	86,161,961 (GRCm39)	missense	probably damaging	1.00
R0131:Adamtsl1	UTSW	4	86,260,960 (GRCm39)	missense	possibly damaging	0.94
R0131:Adamtsl1	UTSW	4	86,260,960 (GRCm39)	missense	possibly damaging	0.94
R0132:Adamtsl1	UTSW	4	86,260,960 (GRCm39)	missense	possibly damaging	0.94
R0453:Adamtsl1	UTSW	4	86,150,852 (GRCm39)	missense	probably damaging	1.00
R0480:Adamtsl1	UTSW	4	86,171,055 (GRCm39)	missense	probably benign	0.08
R0496:Adamtsl1	UTSW	4	86,259,435 (GRCm39)	missense	probably damaging	1.00
R0538:Adamtsl1	UTSW	4	86,261,358 (GRCm39)	missense	probably benign	0.27
R0547:Adamtsl1	UTSW	4	86,274,592 (GRCm39)	missense	probably benign	0.37
R0567:Adamtsl1	UTSW	4	86,146,253 (GRCm39)	missense	probably damaging	1.00
R0568:Adamtsl1	UTSW	4	86,336,789 (GRCm39)	missense	probably damaging	1.00
R0639:Adamtsl1	UTSW	4	86,195,380 (GRCm39)	missense	probably damaging	1.00
R0931:Adamtsl1	UTSW	4	86,168,084 (GRCm39)	missense	probably benign	0.05
R1186:Adamtsl1	UTSW	4	86,306,746 (GRCm39)	missense	probably benign	0.00
R1387:Adamtsl1	UTSW	4	86,293,230 (GRCm39)	splice site	probably benign
R1459:Adamtsl1	UTSW	4	86,344,102 (GRCm39)	missense	probably damaging	1.00
R1518:Adamtsl1	UTSW	4	86,260,840 (GRCm39)	missense	probably damaging	0.99
R1532:Adamtsl1	UTSW	4	86,166,302 (GRCm39)	missense	probably benign	0.02
R1603:Adamtsl1	UTSW	4	86,333,767 (GRCm39)	missense	probably benign
R1931:Adamtsl1	UTSW	4	86,260,648 (GRCm39)	missense	possibly damaging	0.62
R2086:Adamtsl1	UTSW	4	86,146,249 (GRCm39)	missense	probably damaging	1.00
R2221:Adamtsl1	UTSW	4	86,306,762 (GRCm39)	missense	probably benign	0.19
R2223:Adamtsl1	UTSW	4	86,306,762 (GRCm39)	missense	probably benign	0.19
R2396:Adamtsl1	UTSW	4	86,261,356 (GRCm39)	nonsense	probably null
R2397:Adamtsl1	UTSW	4	86,117,594 (GRCm39)	missense	probably damaging	1.00
R2426:Adamtsl1	UTSW	4	86,075,025 (GRCm39)	missense	probably benign	0.01
R3121:Adamtsl1	UTSW	4	86,255,246 (GRCm39)	missense	probably damaging	1.00
R3715:Adamtsl1	UTSW	4	86,135,213 (GRCm39)	missense	probably benign	0.01
R3848:Adamtsl1	UTSW	4	86,336,783 (GRCm39)	missense	probably damaging	1.00
R3849:Adamtsl1	UTSW	4	86,336,783 (GRCm39)	missense	probably damaging	1.00
R3850:Adamtsl1	UTSW	4	86,336,783 (GRCm39)	missense	probably damaging	1.00
R4194:Adamtsl1	UTSW	4	85,972,245 (GRCm39)	intron	probably benign
R4354:Adamtsl1	UTSW	4	86,074,921 (GRCm39)	missense	probably damaging	1.00
R4795:Adamtsl1	UTSW	4	86,162,006 (GRCm39)	critical splice donor site	probably null
R4830:Adamtsl1	UTSW	4	86,274,619 (GRCm39)	missense	probably damaging	0.97
R4874:Adamtsl1	UTSW	4	86,260,729 (GRCm39)	missense	possibly damaging	0.94
R4939:Adamtsl1	UTSW	4	86,161,962 (GRCm39)	missense	possibly damaging	0.95
R4942:Adamtsl1	UTSW	4	86,259,451 (GRCm39)	nonsense	probably null
R4947:Adamtsl1	UTSW	4	85,683,037 (GRCm39)	missense	possibly damaging	0.93
R4960:Adamtsl1	UTSW	4	86,342,410 (GRCm39)	nonsense	probably null
R4971:Adamtsl1	UTSW	4	86,255,168 (GRCm39)	missense	probably damaging	1.00
R5141:Adamtsl1	UTSW	4	86,075,087 (GRCm39)	missense	possibly damaging	0.77
R5213:Adamtsl1	UTSW	4	86,303,865 (GRCm39)	missense	possibly damaging	0.89
R5237:Adamtsl1	UTSW	4	86,303,906 (GRCm39)	critical splice donor site	probably null
R5250:Adamtsl1	UTSW	4	86,135,182 (GRCm39)	nonsense	probably null
R5411:Adamtsl1	UTSW	4	86,306,650 (GRCm39)	critical splice acceptor site	probably null
R5554:Adamtsl1	UTSW	4	86,195,182 (GRCm39)	missense	possibly damaging	0.69
R5631:Adamtsl1	UTSW	4	86,195,160 (GRCm39)	nonsense	probably null
R5739:Adamtsl1	UTSW	4	86,150,901 (GRCm39)	missense	probably damaging	1.00
R5905:Adamtsl1	UTSW	4	86,260,561 (GRCm39)	missense	probably damaging	1.00
R6028:Adamtsl1	UTSW	4	86,260,561 (GRCm39)	missense	probably damaging	1.00
R6044:Adamtsl1	UTSW	4	86,130,928 (GRCm39)	missense	probably damaging	1.00
R6261:Adamtsl1	UTSW	4	86,255,115 (GRCm39)	missense	probably benign	0.09
R6300:Adamtsl1	UTSW	4	86,166,254 (GRCm39)	missense	probably damaging	1.00
R6332:Adamtsl1	UTSW	4	86,135,248 (GRCm39)	missense	probably damaging	0.96
R6560:Adamtsl1	UTSW	4	86,255,130 (GRCm39)	missense	probably damaging	1.00
R6693:Adamtsl1	UTSW	4	86,261,123 (GRCm39)	missense	probably benign	0.27
R6736:Adamtsl1	UTSW	4	86,260,484 (GRCm39)	missense	probably damaging	1.00
R6964:Adamtsl1	UTSW	4	86,075,091 (GRCm39)	missense	probably damaging	1.00
R7064:Adamtsl1	UTSW	4	86,260,278 (GRCm39)	missense	possibly damaging	0.80
R7434:Adamtsl1	UTSW	4	86,344,115 (GRCm39)	missense	probably damaging	0.99
R7477:Adamtsl1	UTSW	4	86,333,888 (GRCm39)	missense	probably damaging	1.00
R7545:Adamtsl1	UTSW	4	85,683,092 (GRCm39)	missense	probably damaging	1.00
R7556:Adamtsl1	UTSW	4	86,195,358 (GRCm39)	missense	probably benign	0.19
R7580:Adamtsl1	UTSW	4	85,972,301 (GRCm39)	missense	possibly damaging	0.53
R7593:Adamtsl1	UTSW	4	86,259,450 (GRCm39)	missense	probably damaging	1.00
R7710:Adamtsl1	UTSW	4	86,150,810 (GRCm39)	missense
R7908:Adamtsl1	UTSW	4	86,274,676 (GRCm39)	missense	probably benign	0.02
R7934:Adamtsl1	UTSW	4	86,161,962 (GRCm39)	missense	probably damaging	1.00
R8056:Adamtsl1	UTSW	4	86,260,269 (GRCm39)	missense	possibly damaging	0.76
R8109:Adamtsl1	UTSW	4	86,166,306 (GRCm39)	missense
R8143:Adamtsl1	UTSW	4	86,260,492 (GRCm39)	missense	possibly damaging	0.71
R8205:Adamtsl1	UTSW	4	86,117,650 (GRCm39)	makesense	probably null
R8215:Adamtsl1	UTSW	4	86,261,382 (GRCm39)	missense	probably benign	0.45
R8250:Adamtsl1	UTSW	4	86,260,846 (GRCm39)	missense	probably damaging	1.00
R8261:Adamtsl1	UTSW	4	86,195,120 (GRCm39)	missense	probably damaging	0.99
R8417:Adamtsl1	UTSW	4	86,074,926 (GRCm39)	missense	possibly damaging	0.81
R8494:Adamtsl1	UTSW	4	86,240,221 (GRCm39)	missense	probably damaging	0.99
R8525:Adamtsl1	UTSW	4	86,195,247 (GRCm39)	missense	probably damaging	1.00
R8688:Adamtsl1	UTSW	4	86,166,263 (GRCm39)	missense
R8698:Adamtsl1	UTSW	4	86,306,714 (GRCm39)	missense	probably benign	0.01
R8778:Adamtsl1	UTSW	4	85,432,687 (GRCm39)	missense	probably benign	0.01
R9015:Adamtsl1	UTSW	4	86,150,847 (GRCm39)	missense	probably damaging	1.00
R9127:Adamtsl1	UTSW	4	86,208,027 (GRCm39)	missense	probably benign
R9326:Adamtsl1	UTSW	4	86,150,804 (GRCm39)	missense	possibly damaging	0.70
R9336:Adamtsl1	UTSW	4	86,240,264 (GRCm39)	missense	probably benign	0.00
R9394:Adamtsl1	UTSW	4	86,135,225 (GRCm39)	missense
R9416:Adamtsl1	UTSW	4	86,342,477 (GRCm39)	missense	probably damaging	1.00
R9571:Adamtsl1	UTSW	4	86,117,543 (GRCm39)	missense	probably benign	0.00
R9627:Adamtsl1	UTSW	4	86,306,762 (GRCm39)	missense	possibly damaging	0.48
R9675:Adamtsl1	UTSW	4	86,161,989 (GRCm39)	missense	probably damaging	1.00
R9798:Adamtsl1	UTSW	4	86,074,927 (GRCm39)	missense	probably damaging	0.98
Z1176:Adamtsl1	UTSW	4	86,260,930 (GRCm39)	missense	probably benign	0.30
Z1176:Adamtsl1	UTSW	4	86,260,414 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGAGCAGTTTGTGATTAAGCTC -3'
(R):5'- CAGGTTCCTGAGGATGTCATC -3'

Sequencing Primer
(F):5'- TTAAGCTCATTGGAGGCAACC -3'
(R):5'- GTTCCTTTCTGCAGAGTC -3'

Posted On

2020-10-20